You searched for "Genetics"
Ethnic disparities in diagnostic sequencing yield
The authors present a systematic review and meta-analysis of the diagnostic yield of next generation sequencing (NGS) for inherited retinal diseases and compare yield from studies performed primarily on patients of European descent from those primarily of East Asian descent....Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation
An experienced ophthalmologist can make an anatomical diagnosis of childhood visual impairment based upon the surgical sieve, i.e., congenital and acquired. But an ophthalmologist cannot work in isolation to make an aetiological diagnosis – one would require the help of...Genetic profiling for personalised healthcare solutions in AMD – an update
Age-related macular degeneration (AMD) is a multifactorial condition influenced by genetics and lifestyle factors (Table 1). This article outlines several recent advances in AMD genetics, as well as evolving therapeutic concepts and established practical measures for the treatment and /...Gene therapy for inherited retinal disease: the Manchester Ocular Gene Therapy Group MDT service
The authors describe the process set up in Manchester for the optimum delivery and assessment of a new gene therapy treatment for patients with RPE65 IRD. Inherited retinal dystrophies (IRDs) are the second commonest cause of severe visual impairment in...New webinar series on sight loss and genomic research
A new webinar series highlighting the latest scientific developments and the future of research will be launched next week.Usher syndrome: an overview
Usher syndrome is the most common hereditary condition that affects both vision and hearing. It is an autosomal recessive condition characterised by retinitis pigmentosa (RP) and bilateral sensorineural hearing loss [1,2]. Usher syndrome is the cause of approximately 10% of...insitro and UK’s INSIGHT at Moorfields Eye Hospital announce collaboration to expand research efforts in neurodegeneration and related conditions
The world’s largest bioresource of eye images offers window into human health and serves as basis of a new AI foundation model to boost drug discovery. insitro, a machine learning-enabled drug discovery and development company, and the INSIGHT Health Data...
